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Gene copy number variation in pediatric mental illness in a general population

Zarrei, M.; Burton, C. L.; Engchuan, W.; Higginbotham, E. J.; Wei, J.; Shaikh, S.; Roslin, N. M.; MacDonald, J. R.; Pellecchia, G.; Nalpathamkalam, T.; Lamoureux, S.; Manshaei, R.; Howe, J.; Trost, B.; Thiruvahindrapuram, B.; Marshall, C. R.; Yuen, R. K.; Wintle, R. F.; Strug, L. J.; Stavropoulos, D. J.; Vorstman, J. A.; Arnold, P.; Merico, D.; Woodbury-Smith, M.; Crosbie, J.; Schachar, R.; Scherer, S. W.

2022-09-15 genetic and genomic medicine
10.1101/2022.09.12.22279764 medRxiv
Show abstract

We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health, and cognitive biomarkers in a community sample of 7,100 unrelated European, and East Asian children and youth (Spit for Science). Diagnoses of mental health disorders were found in 17.5% of participants and 27.6% scored in the highest 10% on either or both ADHD and OCD trait measures. Clinically relevant CNVs were present in 3.9% of participants and were associated with elevated scores on a continuous measure of ADHD (p=5.0x10-3), on a cognitive biomarker of mental health (response inhibition (p=1.0x10-2)), and on prevalence of mental disorders (p=1.9x10-6, odds ratio: 3.09). With a rise of mental illness, our data establishes a baseline for delineating genetic contributors in paediatric-onset conditions. One Sentence SummaryCopy number variation predicts neurodevelopmental and mental health phenotypes in the general population.

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